John A. Sayer

Research interests

Publications

• European Association of Urology Guidelines on the Diagnosis and Treatment of Urolithiasis

  European Urology · 2025 · https://doi.org/10.1016/j.eururo.2025.03.011

• Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

  The Lancet Neurology · 2022 · 10.1016/s1474-4422(21)00462-2

• Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

  Kidney International · 2022 · https://doi.org/10.1016/j.kint.2022.03.019

• An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International

  Nephrology Dialysis Transplantation · 2021 · 10.1093/ndt/gfab312

• Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

  The American Journal of Human Genetics · 2021 · https://doi.org/10.1016/j.ajhg.2021.11.016

• Cystinuria: clinical practice recommendation

  Kidney International · 2020 · 10.1016/j.kint.2020.06.035

• Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

  Kidney International · 2020 · https://doi.org/10.1016/j.kint.2020.04.038

• Healthcare recommendations for Joubert syndrome

  American Journal of Medical Genetics Part A · 2019 · 10.1002/ajmg.a.61399

• Germline selection shapes human mitochondrial DNA diversity

  Science · 2019 · https://doi.org/10.1126/science.aau6520

• Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

  Frontiers in Pediatrics · 2018 · 10.3389/fped.2017.00287

• Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

  Kidney International · 2017 · https://doi.org/10.1016/j.kint.2017.06.025

• Acidosis and Deafness in Patients with Recessive Mutations in FOXI1

  Journal of the American Society of Nephrology · 2017 · 10.1681/asn.2017080840

• Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis

  Journal of the American Society of Nephrology · 2016 · 10.1681/asn.2016050576

• Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis

  Clinical Journal of the American Society of Nephrology · 2016 · 10.2215/cjn.07540715

• Evidence of digenic inheritance in Alport syndrome

  Journal of Medical Genetics · 2015 · 10.1136/jmedgenet-2014-102822

• Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis

  Journal of the American Society of Nephrology · 2014 · 10.1681/asn.2014040388

• Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

  Cell · 2012 · https://doi.org/10.1016/j.cell.2012.06.028

• A meckelin–filamin A interaction mediates ciliogenesis

  Human Molecular Genetics · 2011 · 10.1093/hmg/ddr557

• Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

  Human Mutation · 2011 · 10.1002/humu.22020

• Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

  Journal of Clinical Investigation · 2010 · 10.1172/jci40076

• Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

  Nature Genetics · 2007 · 10.1038/ng2072

• In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

  Human Molecular Genetics · 2006 · https://doi.org/10.1093/hmg/ddl107

• The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

  Nature Genetics · 2006 · https://doi.org/10.1038/ng1786

• Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

  Nature Genetics · 2005 · https://doi.org/10.1038/ng1520

• Nephrocalcinosis: molecular insights into calcium precipitation within the kidney

  Clinical Science · 2004 · 10.1042/cs20040048

Current projects

No projects listed.